Canonical Allele Identifier: CA277454

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 211834
• ClinVar RCV Id: RCV000195211
• dbSNP Id: rs797045870
• MyVariant Identifiers: chr17:g.2577511dupC (hg19) ; chr17:g.2674217dupC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2674217dup , CM000679.2:g.2674217dup	GRCh38
NC_000017.10:g.2577511dup , CM000679.1:g.2577511dup	GRCh37
NC_000017.9:g.2524261dup	NCBI36
NG_009799.1:g.85589dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.829dup MANE Select	ENSP00000380378.4:p.His277ProfsTer19
ENST00000571495.2:n.1914dup
ENST00000674608.1:c.883dup	ENSP00000501976.1:p.His295ProfsTer19
ENST00000674717.1:c.634dup	ENSP00000501931.1:p.His212ProfsTer19
ENST00000675202.1:c.829dup	ENSP00000502843.1:p.His277ProfsTer19
ENST00000675331.1:c.829dup	ENSP00000502031.1:p.His277ProfsTer19
ENST00000675390.1:c.829dup	ENSP00000501969.1:p.His277ProfsTer19
ENST00000675574.1:n.1901dup
ENST00000675621.1:c.829dup	ENSP00000502117.1:p.His277ProfsTer19
ENST00000675764.1:c.*783dup	ENSP00000502242.1:n.*783dup
ENST00000676077.1:c.*147dup	ENSP00000502507.1:n.*147dup
ENST00000676098.1:c.829dup	ENSP00000502735.1:p.His277ProfsTer19
ENST00000676188.1:c.829dup	ENSP00000502577.1:p.His277ProfsTer19
ENST00000676353.1:c.634dup	ENSP00000502737.1:p.His212ProfsTer19
ENST00000397193.7:n.637dup
ENST00000397195.9:c.829dup	ENSP00000380378.4:p.His277ProfsTer19
ENST00000571495.1:n.553dup
ENST00000572915.6:n.676+121dup
ENST00000574468.1:c.325dup	ENSP00000460591.1:p.His109ProfsTer19
ENST00000574816.5:n.31-2097dup
NM_000430.3:c.829dup	NP_000421.1:p.His277ProfsTer19
XM_011523901.1:c.883dup	XP_011522203.1:p.His295ProfsTer19
XM_011523902.1:c.883dup	XP_011522204.1:p.His295ProfsTer19
XM_011523903.1:c.883dup	XP_011522205.1:p.His295ProfsTer19
XM_011523901.2:c.883dup	XP_011522203.1:p.His295ProfsTer19
XM_011523902.3:c.883dup	XP_011522204.1:p.His295ProfsTer19
XM_011523903.2:c.883dup	XP_011522205.1:p.His295ProfsTer19
XM_017024701.1:c.829dup	XP_016880190.1:p.His277ProfsTer19
XM_017024702.2:c.634dup	XP_016880191.1:p.His212ProfsTer19
NM_000430.4:c.829dup MANE Select	NP_000421.1:p.His277ProfsTer19